Xiaofei Li1,2, Huiwen Bi3, Liping Sun1, Faming Zhu4,5, Deqing Wang1. 1. Department of Blood Transfusion, Chinese PLA General Hospital, Beijing, China. 2. Department of Blood Transfusion, Beijing Friendship Hospital, Capital Medical University, Beijing, China. 3. Maternity and Child Care Hospital of Jinan, Shandong, China. 4. Blood Center of Zhejiang Province, Hangzhou, China. 5. Zhejiang Provincial Key Laboratory of Blood Safety Research, Hangzhou, China.
Abstract
BACKGROUND: Individuals with the CisAB phenotype are rare in the Chinese population. In the present study, we investigated the sequence of the ABO gene and family members of a newborn suspected to have the CisAB phenotype. METHODS: The ABO phenotype was detected using conventional serological tests. The full coding region of exons 1 to 7 of the ABO gene was amplified by polymerase chain reaction and was sequenced. The ABO haplotype was determined by the allele-specific primer sequencing method. RESULTS: The proband and his father and grandfather were assigned the CisAB phenotype according to the results of the serological tests and family investigation. A novel CisAB allele was identified in the proband and his father and grandfather, which has only one nucleotide difference at position 796 from A to C (c.796A>C) compared with the ABO*B.01 allele. CONCLUSION: A novel CisAB (c.796A>C mutation in ABO*B.01) allele is the first identified in the Chinese population.
BACKGROUND: Individuals with the CisAB phenotype are rare in the Chinese population. In the present study, we investigated the sequence of the ABO gene and family members of a newborn suspected to have the CisAB phenotype. METHODS: The ABO phenotype was detected using conventional serological tests. The full coding region of exons 1 to 7 of the ABO gene was amplified by polymerase chain reaction and was sequenced. The ABO haplotype was determined by the allele-specific primer sequencing method. RESULTS: The proband and his father and grandfather were assigned the CisAB phenotype according to the results of the serological tests and family investigation. A novel CisAB allele was identified in the proband and his father and grandfather, which has only one nucleotide difference at position 796 from A to C (c.796A>C) compared with the ABO*B.01 allele. CONCLUSION: A novel CisAB (c.796A>C mutation in ABO*B.01) allele is the first identified in the Chinese population.